Variant report

Variant	rs1783201
Chromosome Location	chr11:74205497-74205498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr11:74203805-74205537	K562	blood:	n/a	n/a
2	POLR2A	chr11:74203880-74205590	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:74205025-74205720	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:74203924-74205523	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr11:74205396-74205659	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr11:74204088-74205614	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr11:74204994-74205726	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:74205306-74205719	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:74205221-74205642	HCT-116	colon:	n/a	n/a
10	STAT3	chr11:74205416-74205616	MCF10A-Er-Src	breast:	n/a	n/a
11	MAX	chr11:74203908-74205497	ECC-1	luminal epithelium:	n/a	n/a
12	FOS	chr11:74204881-74205742	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr11:74203807-74205667	MCF10A-Er-Src	breast:	n/a	chr11:74204218-74204227
14	HCFC1	chr11:74203799-74205596	Hela-S3	cervix:	n/a	n/a
15	FOSL2	chr11:74205262-74205697	A549	lung:	n/a	n/a
16	MYC	chr11:74204759-74205614	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr11:74205403-74205610	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74175411..74179003-chr11:74201966..74206100,6	MCF-7	breast:
2	chr11:74176347..74178704-chr11:74203526..74206053,3	K562	blood:
3	chr11:74171843..74173907-chr11:74203180..74205587,3	MCF-7	breast:
4	chr11:74175244..74178880-chr11:74203216..74205739,4	MCF-7	breast:
5	chr11:74203150..74205819-chr11:74301632..74306352,4	MCF-7	breast:
6	chr11:74202987..74205917-chr11:75525143..75527102,2	MCF-7	breast:
7	chr11:74196733..74198968-chr11:74202003..74205722,4	K562	blood:
8	chr11:74204313..74206449-chr16:3506549..3509156,2	MCF-7	breast:
9	chr11:74185351..74193647-chr11:74202565..74206845,12	MCF-7	breast:
10	chr11:74203316..74206013-chr11:74301160..74305311,5	MCF-7	breast:
11	chr11:74196620..74198242-chr11:74204138..74205722,2	K562	blood:

No data

Variant related genes	Relation type
LIPT2	TF binding region
ENSG00000254974	Chromatin interaction
ENSG00000175538	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000262621	Chromatin interaction
ENSG00000122390	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000255444	Chromatin interaction
ENSG00000198382	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10736800	0.84[EUR][1000 genomes]
rs12364885	0.84[ASN][1000 genomes]
rs1280207	0.83[EUR][1000 genomes]
rs1280211	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1280212	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1280217	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1280220	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1298868	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1315199	0.84[EUR][1000 genomes]
rs1315212	0.84[EUR][1000 genomes]
rs1315213	0.84[EUR][1000 genomes]
rs1315214	0.84[EUR][1000 genomes]
rs1315218	0.84[EUR][1000 genomes]
rs1316181	0.81[EUR][1000 genomes]
rs1316182	0.84[EUR][1000 genomes]
rs1433968	0.85[EUR][1000 genomes]
rs1610546	0.84[EUR][1000 genomes]
rs1616179	0.84[EUR][1000 genomes]
rs1617788	0.84[EUR][1000 genomes]
rs1617968	0.85[EUR][1000 genomes]
rs1655469	0.84[EUR][1000 genomes]
rs1655475	0.84[EUR][1000 genomes]
rs1783196	0.85[EUR][1000 genomes]
rs1783197	0.85[EUR][1000 genomes]
rs1783202	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1787091	0.82[EUR][1000 genomes]
rs1787096	0.83[EUR][1000 genomes]
rs1787097	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1787100	0.82[EUR][1000 genomes]
rs1787102	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1787109	0.84[EUR][1000 genomes]
rs1791491	0.84[EUR][1000 genomes]
rs1791492	0.84[EUR][1000 genomes]
rs2509562	0.84[EUR][1000 genomes]
rs2509563	0.84[EUR][1000 genomes]
rs2509993	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2570616	0.85[EUR][1000 genomes]
rs2916310	0.83[EUR][1000 genomes]
rs3017113	0.82[EUR][1000 genomes]
rs3017114	0.84[EUR][1000 genomes]
rs3741128	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581831	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs583404	0.83[EUR][1000 genomes]
rs586088	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589161	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589970	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs594143	0.85[EUR][1000 genomes]
rs594437	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594628	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598395	0.84[EUR][1000 genomes]
rs598525	0.82[EUR][1000 genomes]
rs598821	0.81[EUR][1000 genomes]
rs598926	0.85[EUR][1000 genomes]
rs601419	0.95[ASN][1000 genomes]
rs601904	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs602500	0.83[EUR][1000 genomes]
rs602936	0.86[EUR][1000 genomes]
rs608978	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610435	0.81[EUR][1000 genomes]
rs615732	0.83[EUR][1000 genomes]
rs617343	0.87[EUR][1000 genomes]
rs617989	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627824	0.82[EUR][1000 genomes]
rs627886	0.81[EUR][1000 genomes]
rs628574	0.85[EUR][1000 genomes]
rs628656	0.82[EUR][1000 genomes]
rs640094	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642932	0.84[EUR][1000 genomes]
rs645269	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs645541	0.82[EUR][1000 genomes]
rs648677	0.84[EUR][1000 genomes]
rs649460	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs654943	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655025	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657339	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592566	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659581	0.82[EUR][1000 genomes]
rs660057	0.83[EUR][1000 genomes]
rs660107	0.84[EUR][1000 genomes]
rs660123	0.82[EUR][1000 genomes]
rs660418	0.80[EUR][1000 genomes]
rs660855	0.84[EUR][1000 genomes]
rs661781	0.84[EUR][1000 genomes]
rs663016	0.84[EUR][1000 genomes]
rs663499	0.84[EUR][1000 genomes]
rs663555	0.84[EUR][1000 genomes]
rs674306	0.84[EUR][1000 genomes]
rs674660	0.84[EUR][1000 genomes]
rs675086	0.82[EUR][1000 genomes]
rs675450	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675580	0.84[EUR][1000 genomes]
rs676537	0.84[EUR][1000 genomes]
rs677491	0.85[EUR][1000 genomes]
rs694606	0.84[EUR][1000 genomes]
rs7121457	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928160	0.85[EUR][1000 genomes]
rs7931184	0.84[EUR][1000 genomes]
rs9787964	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv897913	chr11:74171997-74216705	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv555444	chr11:74200739-74221170	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74203200-74205800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:74203400-74205600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:74203600-74205600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:74204000-74205600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:74204400-74205600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:74204800-74205600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:74204800-74205600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:74204800-74205600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:74204800-74205600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:74204800-74205600	Enhancers	Spleen	Spleen
11	chr11:74204800-74205600	Flanking Active TSS	Dnd41	blood
12	chr11:74205000-74205600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:74205000-74205600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr11:74205000-74205600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr11:74205000-74205600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:74205000-74205600	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr11:74205000-74205600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:74205000-74205600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:74205000-74205600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr11:74205000-74205600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr11:74205000-74205600	Flanking Active TSS	A549	lung
22	chr11:74205000-74205600	Flanking Active TSS	Hela-S3	cervix
23	chr11:74205000-74213400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:74205200-74205600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr11:74205200-74205600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:74205200-74205600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:74205200-74205600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:74205200-74205600	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:74205200-74205600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:74205200-74205600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:74205200-74205600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:74205200-74205600	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr11:74205200-74205600	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr11:74205200-74205600	Enhancers	Fetal Muscle Leg	muscle
35	chr11:74205200-74205600	Flanking Active TSS	HepG2	liver
36	chr11:74205200-74205800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:74205200-74207800	Weak transcription	Ovary	ovary
38	chr11:74205400-74205600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:74205400-74205600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:74205400-74205600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:74205400-74205600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:74205400-74205600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:74205400-74205600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr11:74205400-74205600	Enhancers	Primary B cells from cord blood	blood
45	chr11:74205400-74205600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:74205400-74205600	Enhancers	Primary hematopoietic stem cells	blood
47	chr11:74205400-74205600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:74205400-74205600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr11:74205400-74205600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr11:74205400-74205600	Active TSS	Muscle Satellite Cultured Cells	--

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